Clinical case of infantile form of TK-2 associated myopathy, success of nucleoside therapy

TK2­-associated mitochondrial myopathy is a clinically heterogeneous autosomal recessive disease characterized by a predominantly myopathic phenotype with variable age of onset. There are 3 main clinical forms depending on the age of onset: infantile, childhood (juvenile) and late onset (adult). The article presents a description of a clinical case of a patient with an infantile form of the disease with a significant positive effect of pathogenetic therapy with nucleosides.